MD Anderson Events

Topic: The Path to The Medical Genome: From Sequencers to Clinicians through Computer Science

Abstract: High throughput sequencing (HTS) technologies are enabling the inexpensive sequencing of human genomes. However the realization of the medical advantages of your personal genome requires the use of sophisticated algorithms, visualization techniques, and other computational methodologies. In this talk I will highlight the computational challenges involved with working with HTS data, and show how Computer Science research is helping to overcome these. First I will review methods for discovery of variants in a human genome, demonstrating how advanced algorithmic approaches can help identify variants inaccessible to simple methods. I will then discuss statistical learning methods that aim to prioritize these variants based on having functional and medical consequences, including the use of these for “silent” variants, previously not thought to have any functional roles. Finally I will demonstrate MedSavant, a platform for analysis and visualization of medical genomic data that aims to help geneticists and clinicians to identify and validate disease-causing mutations.